Zhonghua Er Ke Za Zhi 2021 May;59(5):400-406
Department of Pediatrics, Hunan Intellectual and Developmental Disabilities Research Center, Xiangya Hospital of Central South University, Changsha 410008, China.
To investigate the clinical characteristics of R403C variant in DNM1L gene caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF1). The clinical data of three patients, who carried R403C variant in the DNM1L gene, diagnosed at Xiangya Hospital from February 2018 to February 2020 were retrospectively summarized. Literature reviewing was performed by taking "DNM1L" or "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" as keywords for searching in online Mendelian inheritance in man (OMIM), PubMed, China national knowledge infrastructure (CNKI), and Wanfang data knowledge service platform up to July 2020. Read More